Article
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Journal of medical genetics - 1 Sept 2016
Roosing Susanne, Romani Marta, Isrie Mala, Rosti Rasim Ozgur, Micalizzi Alessia, Musaev Damir, Mazza Tommaso, Al-Gazali Lihadh, Altunoglu Umut, Boltshauser Eugen, D'Arrigo Stefano, De Keersmaecker Bart, Kayserili Hülya, Brandenberger Sarah, Kraoua Ichraf, Mark Paul R, McKanna Trudy, Van Keirsbilck Joachim, Moerman Philippe, Poretti Andrea, Puri Ratna, Van Esch Hilde, Gleeson Joseph G, Valente Enza Maria
Abstract excerpt
BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Cell Cycle Proteins
- Cerebellar Diseases
- Cerebellum
- Child
- Ciliopathies
- Encephalocele